Hereditary sensory and autonomic neuropathy in a male child: 'The other side of not feeling pain'.
BMJ case reports(2018)
Abstract
A 1-year-old boy was brought to our outpatient department with complaints of whitish opacity in both eyes noticed 3 months ago. The mother also gave a history of self-mutilating behaviour in the child. There was a history of absence of crying during vaccination. There was no history of consanguinity and a similar disease in the family. The child was following light binocularly. On anterior segment examination, bilateral corneal scarring secondary to keratitis was seen (figure 1A). Corneal sensations were absent. An ocular ultrasonography was done for posterior segment evaluation, which revealed no abnormalities. There were signs of self-mutilation in the perioral area in form of damage to both upper and lower lips that caused as a result of repeated insults in form …
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Key words
genetics,neuro genetics,ophthalmology,paediatrics
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